| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ala573HisfsX10 |
c.1717delG |
15 |
573 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15953 |
TNMD-US#351 | M |
|
US |
|
0 |
|
| p.Trp574GlyfsX9 |
c.1719delA |
15 |
573 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
|
|
| p.Val605PhefsX2 |
c.1812delC |
15 |
604 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 606 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2728 |
TNMD_FR#F3419011281 | M |
|
FR |
|
0 |
|
| p.Glu850LysfsX4 |
c.2547delT |
20 |
849 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 853 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17329 |
TNMD-US#3544 | M |
|
US |
|
0 |
|
| p.Ala2308GlufsX6 |
c.6923_6933del |
48 |
2308 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2313 |
1  |
|
|
| p.Ala2422GlufsX6 |
c.7265delC |
50 |
2422 |
CRD-repeat #19 |
|
Small rearrangement |
Fr. |
Stop at 2427 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7595 |
TNMD_CN_HOSP#225 | M |
|
CN |
|
0 |
|
| p.Ala2515_Arg2547del |
c.7543_7641del |
52 |
2515 |
CRD-repeat #20 |
|
Small rearrangement |
InF |
In frame del |
1  |
|
|
| p.Ala2980_Thr3016del |
c.8938_9048del |
60 |
2980 |
CRD-repeat #24 |
|
Small rearrangement |
InF |
In frame del |
2  |
|
|
| p.Arg3575GlyfsX19 |
c.10722delC |
75 |
3574 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3593 |
2  |
|
|